Variant report

Variant	rs698948
Chromosome Location	chr1:94993818-94993819
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs698946	0.82[LWK][hapmap]
rs698947	1.00[AFR][1000 genomes]
rs841693	1.00[AFR][1000 genomes]
rs841694	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
3	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
4	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:94965400-94995800	Weak transcription	HSMM	muscle
7	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
8	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
11	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
14	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:94972200-95004400	Weak transcription	A549	lung
17	chr1:94972400-94994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:94972400-94994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:94972400-94995600	Weak transcription	Left Ventricle	heart
20	chr1:94972400-94995800	Weak transcription	NHEK	skin
21	chr1:94979200-95005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:94983200-94995200	Weak transcription	Placenta	Placenta
23	chr1:94983400-94996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:94984200-94995800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:94984800-94995600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:94984800-94995800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:94985000-94995800	Weak transcription	Dnd41	blood
28	chr1:94985200-95001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:94985600-94994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:94985800-94995600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:94986000-95006200	Weak transcription	Liver	Liver
32	chr1:94986200-94994000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:94986200-94995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:94986200-94995800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:94986400-94995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:94986600-94994400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:94988800-95000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:94991200-94994400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:94991200-94995000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:94991600-95004000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:94992200-94994600	Enhancers	Fetal Heart	heart
42	chr1:94992200-94996000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:94992200-94997200	Weak transcription	HepG2	liver
44	chr1:94992800-94994400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:94992800-94996000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:94993000-94994000	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:94993000-94994000	Enhancers	Fetal Brain Female	brain
48	chr1:94993000-94994000	Enhancers	Hela-S3	cervix
49	chr1:94993000-94994200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:94993000-94994400	Enhancers	HUES48 Cell Line	embryonic stem cell

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